R1315C (p.Arg1315Cys) variant of VWF (von Willebrand factor)
R1315C (p.Arg1315Cys) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of von Willebrand disease type 1; VWF-related disorder; von Willebrand disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R1315C (p.Arg1315Cys) variant details
- p.Arg1315Cys
- rs61749395
- ClinGen CA228502
- NCI-TCGA Cosmic COSV5461
- ClinVar RCV000086712
- Pathogenic/Likely pathogenic
- von Willebrand disease type 1; VWF-related disorder; von Willebrand disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.77
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (von Willebrand disease type 1; VWF-related disorder; von Willebr)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)